News

Treatment with a compound found in green tea leaves significantly improved cognitive function in patients with fragile X syndrome, a study shows. This new clinical data came from a study of the epigallocatechin-3-gallate (EGCG) compound, a major component of green tea leaves. The study, “A phase 1, randomized…

Increased social avoidance during infancy and early childhood in boys with fragile X syndrome (FXS) is associated with higher risk of autism spectrum disorder (ASD) and lower risk of attention deficit/hyperactivity disorder (ADHD) and anxiety, according to a recent study. The study, “Infant Social Avoidance Predicts Autism but…

Pediatricians might not be aware of guidelines for genetic testing in children with global developmental delay (GDD), even though they often order such tests. This suggests the need for doctors to receive up-to-date training on genetic testing for GDD, especially as new tests are developed. The study with those findings, “…

Mavoglurant (AFQ056), a candidate for the treatment of fragile X syndrome (FXS), restored functionality in sensory networks but failed to do so in a cognition-related brain region in a mouse model of the disease, recent study shows. The research, “Inhibiting mGluR5 activity by AFQ056/Mavoglurant rescues circuit-specific functional…

Young adults with fragile X syndrome (FXS) and their parents have identified several areas of major concern, including those related to physical, psychological, social, and financial issues, in a qualitative study. The study, “Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their…

A combination of two chemical modulators of gene activity can stably reactivate the FMR1 gene, the gene that is “switched off” in those with fragile X syndrome, according to a study in human cells and mouse models of the disease. These results add to prior evidence that supports FMR1 reactivation…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

Women with fragile X syndrome surpass men in their decisional capacity for informed consent about participation in clinical trials, a study says. The findings of the study, “Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome,” were published in the Journal of Autism and…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Given the genetic variability behind the disease, current clinical diagnostic criteria for fragile X-linked tremor/ataxia syndrome do not accurately detect late-onset ataxia (abnormal, uncoordinated movements), a study suggests. The research, “Low Diagnostic Accuracy of Fragile X Tremor/Ataxia Syndrome Diagnostic Criteria in Late Onset Ataxia” was published as a…